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13 results on '"Miny, Peter"'

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1. Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly.

2. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

4. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism.

10. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

11. Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.

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